"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1712352	NM_015272.5(RPGRIP1L):c.3486A>G (p.Gln1162=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Kidney disorder	GUncertain significance
Select item 167606	NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg)	RPGRIP1L (Q1132R +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +7 more	GBenign/Likely benign
Select item 167607	NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=)	RPGRIP1L	Single nucleotide variant (synonymous variant +1 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 126278	NM_015272.5(RPGRIP1L):c.3295-8del	RPGRIP1L	Deletion (intron variant)	Familial aplasia of the vermis +3 more	GBenign
Select item 699435	NM_015272.5(RPGRIP1L):c.2305-8T>G	RPGRIP1L	Single nucleotide variant (intron variant)	Kidney disorder +2 more	GConflicting classifications of pathogenicity
Select item 95690	NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln)	RPGRIP1L (R744Q)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 967617	NM_015272.5(RPGRIP1L):c.1880A>C (p.Lys627Thr)	RPGRIP1L (K627T)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +3 more	GUncertain significance
Select item 126275	NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Kidney disorder +7 more	GBenign/Likely benign
Select item 1078	NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr)	RPGRIP1L (A229T)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign
Select item 695447	NM_015272.5(RPGRIP1L):c.123A>G (p.Ala41=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Kidney disorder +2 more	GBenign/Likely benign